{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T02:51:49Z","timestamp":1785898309035,"version":"3.56.0"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T00:00:00Z","timestamp":1692316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected data on patients with <jats:italic>ANKRD11<\/jats:italic> variants by contacting University Medical Centers in the Netherlands, an international network of collaborating clinicians, and study groups who previously published about KBG syndrome. All patients with a likely pathogenic or pathogenic <jats:italic>ANKRD11<\/jats:italic> variant were included in our patient cohort and categorized into an \u201cepilepsy group\u201d or \u201cnon\u2010epilepsy group\u201d. Additionally, we included previously reported patients with (likely) pathogenic <jats:italic>ANKRD11<\/jats:italic> variants and epilepsy from the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 75 patients with KBG syndrome of whom 26 had epilepsy. Those with epilepsy more often had moderate to severe intellectual disability (42.3% vs 9.1%, RR 4.6 [95% CI 1.7\u201313.1]). Seizure onset in patients with KBG syndrome occurred at a median age of 4\u2009years (range 12\u2009months \u2013 20\u2009years), and the majority had generalized onset seizures (57.7%) with tonic\u2013clonic seizures being most common (23.1%). The epilepsy type was mostly classified as generalized (42.9%) or combined generalized and focal (42.9%), not fulfilling the criteria of an electroclinical syndrome diagnosis. Half of the epilepsy patients (50.0%) were seizure free on anti\u2010seizure medication (ASM) for at least 1\u2009year at the time of last assessment, but 26.9% of patients had drug\u2010resistant epilepsy (failure of \u22652 ASM). No genotype\u2013phenotype correlation could be identified for the presence of epilepsy or epilepsy characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Epilepsy in KBG syndrome most often presents as a generalized or combined focal and generalized type. No distinctive epilepsy syndrome could be identified. Patients with KBG syndrome and epilepsy had a significantly poorer neurodevelopmental outcome compared with those without epilepsy. Clinicians should consider KBG syndrome as a causal etiology of epilepsy and be aware of the poorer neurodevelopmental outcome in individuals with epilepsy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12799","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T05:09:31Z","timestamp":1690520971000},"page":"1300-1313","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Epilepsy is an important feature of <scp>KBG<\/scp> syndrome associated with poorer developmental outcome"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4934-8174","authenticated-orcid":false,"given":"Nathan","family":"Buijsse","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floor E.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Brain Center University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte W.","family":"Ockeloen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan J. A.","family":"van Kempen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shimriet","family":"Zeidler","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein H.","family":"Willemsen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Scarano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics St. Orsola\u2010Malpighi Hospital  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Monticone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Azienda Ospedaliero Universitaria Maggiore della Carit\u00e0  Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelien","family":"Zonneveld\u2010Huijssoon","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Groningen University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen J.","family":"Low","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospitals Bristol and Weston NHS trust University of Bristol  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4986-8006","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department for Genetics and Personalized Medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Institute for Regional Health Services University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1511-5893","authenticated-orcid":false,"given":"Sanjay M.","family":"Sisodiya","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology and Chalfont Centre for Epilepsy  Chalfont St Peter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5154-8717","authenticated-orcid":false,"given":"Debopam","family":"Samanta","sequence":"additional","affiliation":[{"name":"Child Neurology Section, Department of Pediatrics University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9492","authenticated-orcid":false,"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospitals of Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"de Jong","sequence":"additional","affiliation":[{"name":"Department of Neurology Academic Center for Epileptology Kempenhaeghe\/MUMC+  Heeze The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaqcues C.","family":"Giltay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke E.","family":"Verbeek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva H.","family":"Brilstra","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danique R. 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